Loeys-Dietz Syndrome 4 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

LDS4 MCID: LYS017 MIFTS: 51	Loeys-Dietz Syndrome 4 (LDS4) Categories: Bone diseases, Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Immune diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Loeys-Dietz Syndrome 4

MalaCards integrated aliases for Loeys-Dietz Syndrome 4:

Name: Loeys-Dietz Syndrome 4 ⁵⁷ ¹² ²⁰ ⁷² ²⁹ ⁶ ¹⁵ ⁷⁰

Lds4 ⁵⁷ ¹² ⁷²

Aneurysm, Aortic and Cerebral, with Arterial Tortuosity and Skeletal Manifestations ⁵⁷ ¹²

Aortic and Cerebral Aneurysm with Arterial Tortuosity and Skeletal Manifestations ⁷²

Syndrome, Loeys-Dietz, Type 4 ³⁹

Loeys-Dietz Syndrome, Type 4 ¹³

Loeys-Dietz Syndrome Type 4 ²⁰

Characteristics:

OMIM®:

⁵⁷ (Updated 20-May-2021)

Inheritance:
autosomal dominant

Miscellaneous:
patients do not have ectopia lentis

HPO:

³¹

loeys-dietz syndrome 4:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Eye diseases Cardiovascular diseases Bone diseases Immune diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0070233

OMIM® ⁵⁷ 614816

OMIM Phenotypic Series ⁵⁷ PS609192

MeSH ⁴⁴ D055947

MedGen ⁴¹ C3553762 CN143719

UMLS ⁷⁰ C3553762

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Summaries for Loeys-Dietz Syndrome 4

UniProtKB/Swiss-Prot : ⁷² Loeys-Dietz syndrome 4: An aortic aneurysm syndrome with widespread systemic involvement. LDS4 is characterized by arterial tortuosity, aortic dissection, intracranial aneurysm and subarachnoid hemorrhage, hypertelorism, bifid uvula, pectus deformity, bicuspid aortic valve, arachnodactyly, scoliosis, foot deformities, dural ectasia, joint hyperflexibility, and thin skin with easy bruising and striae.

MalaCards based summary : Loeys-Dietz Syndrome 4, also known as lds4, is related to scoliosis and marfan syndrome, and has symptoms including wrist sign and steinberg thumb sign. An important gene associated with Loeys-Dietz Syndrome 4 is TGFB2 (Transforming Growth Factor Beta 2), and among its related pathways/superpathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and PAK Pathway. Affiliated tissues include eye and skin, and related phenotypes are bicuspid aortic valve and emphysema

Disease Ontology : ¹² A Loeys-Dietz syndrome that has material basis in heterozygous mutation in the TGFB2 gene on chromosome 1q41.

More information from OMIM: 614816 PS609192

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Related Diseases for Loeys-Dietz Syndrome 4

Diseases in the Loeys-Dietz Syndrome family:

Loeys-Dietz Syndrome 1	Loeys-Dietz Syndrome 2
Loeys-Dietz Syndrome 3	Loeys-Dietz Syndrome 4
Loeys-Dietz Syndrome 5

Diseases related to Loeys-Dietz Syndrome 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 68)

#	Related Disease	Score	Top Affiliating Genes
1	scoliosis	30.3	TGFBR2 TGFB2 SMAD3 FBN1
2	marfan syndrome	30.2	TGFBR2 TGFBR1 TGFB2 FBN1
3	aortic aneurysm	29.8	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SLC2A10
4	loeys-dietz syndrome	29.7	TGFBR2 TGFBR1 TGFB3 TGFB2-OT1 TGFB2-AS1 TGFB2
5	orthostatic intolerance	29.5	TGFBR2 TGFBR1 TGFB2 SMAD3 SLC2A10 FBN1
6	loeys-dietz syndrome 1	29.3	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SLC2A10
7	aortic aneurysm, familial thoracic 1	29.3	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
8	loeys-dietz syndrome 3	29.0	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
9	hypermobile ehlers-danlos syndrome	10.4
10	pulsating exophthalmos	10.2	TGFBR2 TGFBR1
11	transient hypogammaglobulinemia of infancy	10.2	TGFBR2 TGFBR1
12	transient hypogammaglobulinemia	10.2	TGFBR2 TGFBR1
13	holt-oram syndrome	10.2
14	alacrima, achalasia, and mental retardation syndrome	10.2
15	isolated ectopia lentis	10.2
16	blood platelet disease	10.2
17	cerebrovascular disease	10.2
18	retinal degeneration	10.2
19	tendinosis	10.2	TGFBR2 TGFB2
20	tuberculoid leprosy	10.2	TGFB3 TGFB2
21	multiple self-healing squamous epithelioma	10.2	TGFBR2 TGFBR1
22	tracheal stenosis	10.2	TGFB3 FBN1
23	ectopia lentis 1, isolated, autosomal dominant	10.2	TGFBR2 FBN1
24	ectopia lentis 2, isolated, autosomal recessive	10.2	TGFBR2 FBN1
25	peyronie's disease	10.1	TGFB3 TGFB2 SMAD3
26	ehlers-danlos syndrome, vascular type	10.1	TGFB2 FBN1
27	bullous keratopathy	10.1	TGFB3 TGFB2 FBN1
28	keratopathy	10.1	TGFB3 TGFB2 FBN1
29	autosomal dominant non-syndromic intellectual disability 19	10.1	SMAD3 SMAD2
30	mitral valve disease	10.1	TGFB3 TGFB2 FBN1
31	intracranial aneurysm	10.1	TGFBR2 TGFBR1 TGFB2
32	phacogenic glaucoma	10.1	TGFB2 FBN1
33	hereditary hemorrhagic telangiectasia	10.1	TGFBR2 TGFBR1 TGFB2
34	albinism, ocular, with late-onset sensorineural deafness	10.1	SMAD3 SMAD2
35	aortic aneurysm, familial thoracic 2	10.1	SLC2A10 FBN1
36	nephrogenic systemic fibrosis	10.1	SMAD3 SMAD2
37	mitochondrial dna depletion syndrome 12b	10.1	TGFBR2 TGFBR1 FBN1
38	aortic valve insufficiency	10.1	TGFBR2 TGFBR1 FBN1
39	loeys-dietz syndrome 2	10.1	TGFBR2 TGFBR1 FBN1
40	collagen disease	10.0	TGFBR2 TGFBR1 FBN1
41	spastic paraplegia 3, autosomal dominant	10.0	TGFB2 SMAD3 SMAD2
42	cutis laxa, autosomal recessive, type ia	10.0	SLC2A10 FBN1
43	hypertrophic scars	10.0	SMAD3 SMAD2 FBN1
44	cleft palate, isolated	9.9	TGFBR2 TGFBR1 TGFB3 TGFB2
45	subclavian artery aneurysm	9.9	TGFBR2 SLC2A10 FBN1
46	autosomal recessive cutis laxa type i	9.9	SLC2A10 FBN1
47	cleft soft palate	9.9	TGFBR2 SLC2A10
48	melorheostosis	9.9	SMAD3 SMAD2
49	stiff skin syndrome	9.9	TGFB2 FBN1
50	aortic aneurysm, familial abdominal, 1	9.8	TGFBR2 LINC00540 FBN1

Graphical network of the top 20 diseases related to Loeys-Dietz Syndrome 4:

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Symptoms & Phenotypes for Loeys-Dietz Syndrome 4

Human phenotypes related to Loeys-Dietz Syndrome 4:

³¹ (show all 30)

#	Description	HPO Frequency	HPO Source Accession
1	bicuspid aortic valve ³¹	occasional (7.5%)	HP:0001647
2	emphysema ³¹	occasional (7.5%)	HP:0002097
3	pneumothorax ³¹	occasional (7.5%)	HP:0002107
4	scoliosis ³¹	very rare (1%)	HP:0002650
5	ptosis ³¹	very rare (1%)	HP:0000508
6	hypertelorism ³¹	very rare (1%)	HP:0000316
7	pes planus ³¹	very rare (1%)	HP:0001763
8	retrognathia ³¹	very rare (1%)	HP:0000278
9	high, narrow palate ³¹	very rare (1%)	HP:0002705
10	aortic dissection ³¹	very rare (1%)	HP:0002647
11	talipes equinovarus ³¹	very rare (1%)	HP:0001762
12	striae distensae ³¹	very rare (1%)	HP:0001065
13	arachnodactyly ³¹	very rare (1%)	HP:0001166
14	dural ectasia ³¹	very rare (1%)	HP:0100775
15	downslanted palpebral fissures ³¹	very rare (1%)	HP:0000494
16	spondylolisthesis ³¹	very rare (1%)	HP:0003302
17	joint hyperflexibility ³¹	very rare (1%)	HP:0005692
18	bruising susceptibility ³¹	very rare (1%)	HP:0000978
19	tall stature ³¹	very rare (1%)	HP:0000098
20	hyperextensible skin ³¹	very rare (1%)	HP:0000974
21	bifid uvula ³¹	very rare (1%)	HP:0000193
22	torticollis ³¹	very rare (1%)	HP:0000473
23	arterial tortuosity ³¹	very rare (1%)	HP:0005116
24	chronic pain ³¹	very rare (1%)	HP:0012532
25	broad uvula ³¹	very rare (1%)	HP:0010809
26	inguinal hernia ³¹		HP:0000023
27	mitral valve prolapse ³¹		HP:0001634
28	aortic root aneurysm ³¹		HP:0002616
29	abnormal sternum morphology ³¹		HP:0000766
30	eosinophilic infiltration of the esophagus ³¹		HP:0410151

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 20-May-2021)

Skeletal Spine:
scoliosis
spondylolisthesis (rare)

Genitourinary External Genitalia Female:
inguinal hernia

Cardiovascular Vascular:
aortic dissection
aortic root aneurysm
arterial tortuosity
cerebrovascular aneurysm (in some patients)
fusiform dilation and tortuosity of cerebrovascular arteries

Skeletal Hands:
arachnodactyly
steinberg thumb sign

Skeletal:
joint hyperflexibility
tall stature

Skin Nails Hair Skin:
easy bruising
skin striae

Head And Neck Mouth:
high-arched palate
broad or bifid uvula (in some patients)

Chest Ribs Sternum Clavicles And Scapulae:
pectus deformity

Skeletal Pelvis:
protrusio acetabularis

Genitourinary External Genitalia Male:
inguinal hernia

Head And Neck Face:
retrognathia

Cardiovascular Heart:
mitral valve prolapse
bicuspid aortic valve (rare)

Neurologic Central Nervous System:
dural ectasia

Skeletal Limbs:
wrist sign

Skeletal Feet:
flat feet
club feet (in some patients)

Head And Neck Eyes:
hypertelorism (in some patients)
downslanting palpebral fissures (in some patients)

Respiratory Lung:
emphysema (rare)
pneumothorax (rare)

Clinical features from OMIM®:

614816 (Updated 20-May-2021)

UMLS symptoms related to Loeys-Dietz Syndrome 4:

wrist sign; steinberg thumb sign

GenomeRNAi Phenotypes related to Loeys-Dietz Syndrome 4 according to GeneCards Suite gene sharing:

²⁶ (show all 34)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-100	9.92	SMAD2
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-11	9.92	SMAD2 TGFB2 TGFBR1 TGFBR2
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-115	9.92	TGFB2
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-12	9.92	TGFBR2
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-132	9.92	TGFBR2
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-138	9.92	TGFB2
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-14	9.92	TGFB2
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-147	9.92	TGFBR1 TGFBR2
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-162	9.92	TGFBR2
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-165	9.92	TGFBR2
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-169	9.92	TGFBR1
12	Increased shRNA abundance (Z-score > 2)	GR00366-A-172	9.92	SMAD2
13	Increased shRNA abundance (Z-score > 2)	GR00366-A-174	9.92	SMAD2
14	Increased shRNA abundance (Z-score > 2)	GR00366-A-186	9.92	TGFBR2
15	Increased shRNA abundance (Z-score > 2)	GR00366-A-188	9.92	TGFBR2
16	Increased shRNA abundance (Z-score > 2)	GR00366-A-196	9.92	TGFB2
17	Increased shRNA abundance (Z-score > 2)	GR00366-A-200	9.92	TGFBR1
18	Increased shRNA abundance (Z-score > 2)	GR00366-A-203	9.92	SMAD2
19	Increased shRNA abundance (Z-score > 2)	GR00366-A-205	9.92	SMAD2
20	Increased shRNA abundance (Z-score > 2)	GR00366-A-215	9.92	TGFB2
21	Increased shRNA abundance (Z-score > 2)	GR00366-A-22	9.92	TGFBR1
22	Increased shRNA abundance (Z-score > 2)	GR00366-A-25	9.92	SMAD2
23	Increased shRNA abundance (Z-score > 2)	GR00366-A-37	9.92	TGFBR1
24	Increased shRNA abundance (Z-score > 2)	GR00366-A-39	9.92	TGFBR2
25	Increased shRNA abundance (Z-score > 2)	GR00366-A-42	9.92	TGFB2
26	Increased shRNA abundance (Z-score > 2)	GR00366-A-48	9.92	TGFBR2
27	Increased shRNA abundance (Z-score > 2)	GR00366-A-59	9.92	TGFB2
28	Increased shRNA abundance (Z-score > 2)	GR00366-A-60	9.92	TGFB2 TGFBR1 TGFBR2
29	Increased shRNA abundance (Z-score > 2)	GR00366-A-7	9.92	TGFBR2
30	Increased shRNA abundance (Z-score > 2)	GR00366-A-72	9.92	TGFB2
31	Increased shRNA abundance (Z-score > 2)	GR00366-A-73	9.92	TGFB2
32	Increased shRNA abundance (Z-score > 2)	GR00366-A-77	9.92	TGFBR1
33	Increased shRNA abundance (Z-score > 2)	GR00366-A-85	9.92	TGFBR1
34	Increased shRNA abundance (Z-score > 2)	GR00366-A-88	9.92	TGFBR1

MGI Mouse Phenotypes related to Loeys-Dietz Syndrome 4:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cardiovascular system	MP:0005385	9.91	FBN1 PPFIA2 SLC2A10 SMAD2 SMAD3 TGFB2
2	craniofacial	MP:0005382	9.63	FBN1 SMAD2 SMAD3 TGFB2 TGFB3 TGFBR2
3	embryo	MP:0005380	9.56	FBN1 NDUFA9 SMAD2 SMAD3 TGFB2 TGFB3
4	respiratory system	MP:0005388	9.17	FBN1 SLC2A10 SMAD2 TGFB2 TGFB3 TGFBR1

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Drugs & Therapeutics for Loeys-Dietz Syndrome 4

Search Clinical Trials , NIH Clinical Center for Loeys-Dietz Syndrome 4

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Genetic Tests for Loeys-Dietz Syndrome 4

Genetic tests related to Loeys-Dietz Syndrome 4:

#	Genetic test	Affiliating Genes
1	Loeys-Dietz Syndrome 4 ²⁹	TGFB2

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Anatomical Context for Loeys-Dietz Syndrome 4

MalaCards organs/tissues related to Loeys-Dietz Syndrome 4:

⁴⁰

Eye, Skin

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Publications for Loeys-Dietz Syndrome 4

Articles related to Loeys-Dietz Syndrome 4:

(show all 15)

#	Title	Authors	PMID	Year
1	Whole exome sequencing for the identification of a new mutation in TGFB2 involved in a familial case of non-syndromic aortic disease. ⁶ ⁵⁷	Gago-Diaz M...Brion M	25046559	2014
2	Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. ⁶ ⁵⁷	Lindsay ME...Loeys BL	22772368	2012
3	TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome. ⁶ ⁵⁷	Boileau C...Milewicz DM	22772371	2012
4	High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing. ⁶	Kim YM...Yoo HW	28425089	2017
5	Routine Genetic Testing for Thoracic Aortic Aneurysm and Dissection in a Clinical Setting. ⁶	Ziganshin BA...Elefteriades JA	26188975	2015
6	Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome. ⁶	Kuechler A...Borck G	26184463	2015
7	Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections. ⁶	Bertoli-Avella AM...Loeys BL	25835445	2015
8	De novo mutation of the latency-associated peptide domain of TGFB3 in a patient with overgrowth and Loeys-Dietz syndrome features. ⁶	Matyas G...Oexle K	24798638	2014
9	A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with Marfan and Loeys-Dietz syndrome. ⁶	Rienhoff HY...Whitman M	23824657	2013
10	TGF-β - an excellent servant but a bad master. ⁶	Kubiczkova L...Sevcikova S	22943793	2012
11	Crystal structure of transforming growth factor-beta 2: an unusual fold for the superfamily. ⁶	Daopin S...Davies DR	1631557	1992
12	[Comparison of results between the Robinson method of drainage and marsupialization]. ⁶	Limani D...Rrusta A	2618446	1989
13	Phenotypic variability and diffuse arterial lesions in a family with Loeys-Dietz syndrome type 4. ⁶¹	Mazzella JM...Albuisson J	27440102	2017
14	Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation. ⁶¹	Ritelli M...Colombi M	25163805	2014
15	Diagnostic yield in adults screened at the Marfan outpatient clinic using the 1996 and 2010 Ghent nosologies. ⁶¹	Aalberts JJ...van den Berg MP	22461464	2012

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Genes for Loeys-Dietz Syndrome 4

Genes related to Loeys-Dietz Syndrome 4 (2 elite genes):

(show all 15)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	TGFB2	Transforming Growth Factor Beta 2	Protein Coding	1351.25	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	22772368
2	TGFB3	Transforming Growth Factor Beta 3	Protein Coding	440.77	Pathogenic ⁶ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)	24798638 28425089 26184463 (more) 25835445
3	TGFB2-OT1	TGFB2 Overlapping Transcript 1	RNA Gene	9.01	GeneCards inferred via : Variants (show sections)
4	TGFB2-AS1	TGFB2 Antisense RNA 1 (Head To Head)	RNA Gene	8.23	GeneCards inferred via : Variants (show sections)
5	TGFBR1	Transforming Growth Factor Beta Receptor 1	Protein Coding	6.33	DISEASES inferred ¹⁵
6	PPFIA2	PTPRF Interacting Protein Alpha 2	Protein Coding	6.31	DISEASES inferred ¹⁵
7	TGFBR2	Transforming Growth Factor Beta Receptor 2	Protein Coding	6.24	DISEASES inferred ¹⁵
8	SMAD3	SMAD Family Member 3	Protein Coding	6.12	DISEASES inferred ¹⁵
9	FBN1	Fibrillin 1	Protein Coding	5.78	DISEASES inferred ¹⁵
10	NDUFA9	NADH:Ubiquinone Oxidoreductase Subunit A9	Protein Coding	5.72	DISEASES inferred ¹⁵
11	SMAD2	SMAD Family Member 2	Protein Coding	5.32	DISEASES inferred ¹⁵
12	SLC2A10	Solute Carrier Family 2 Member 10	Protein Coding	5.22	DISEASES inferred ¹⁵
13	LINC00540	Long Intergenic Non-Protein Coding RNA 540	RNA Gene	5.18	DISEASES inferred ¹⁵
14	TIMM8A	Translocase Of Inner Mitochondrial Membrane 8A	Protein Coding	5.08	DISEASES inferred ¹⁵
15	NEURL2	Neuralized E3 Ubiquitin Protein Ligase 2	Protein Coding	5.04	DISEASES inferred ¹⁵

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Variations for Loeys-Dietz Syndrome 4

ClinVar genetic disease variations for Loeys-Dietz Syndrome 4:

⁶ (show top 50) (show all 295)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	TGFB2	NM_001135599.3(TGFB2):c.1097C>A (p.Pro366His)	SNV	Pathogenic	37085	rs387907278	GRCh37: 1:218610765-218610765 GRCh38: 1:218437423-218437423
2	TGFB2	NM_003238.5(TGFB2):c.294_308del (p.Ala100_Tyr104del)	Deletion	Pathogenic	37086	rs398122883	GRCh37: 1:218520337-218520351 GRCh38: 1:218346995-218347009
3	TGFB2	NM_003238.5(TGFB2):c.687C>A (p.Cys229Ter)	SNV	Pathogenic	37088	rs398122885	GRCh37: 1:218607723-218607723 GRCh38: 1:218434381-218434381
4	overlap with 21 genes		Deletion	Pathogenic	224870		GRCh37: 1:215588712-222145072 GRCh38:
5	overlap with 8 genes		Deletion	Pathogenic	224871		GRCh37: 1:216672181-220202575 GRCh38:
6	TGFB2	NM_001135599.3(TGFB2):c.979C>T (p.Arg327Trp)	SNV	Pathogenic	213845	rs863223792	GRCh37: 1:218609452-218609452 GRCh38: 1:218436110-218436110
7	TGFB2	NM_001135599.3(TGFB2):c.297C>A (p.Tyr99Ter)	SNV	Pathogenic	224874	rs760759052	GRCh37: 1:218520340-218520340 GRCh38: 1:218346998-218346998
8	TGFB2	NM_003238.5(TGFB2):c.1022_1026del (p.Tyr341fs)	Deletion	Pathogenic	224873	rs398122884	GRCh37: 1:218610773-218610777 GRCh38: 1:218437431-218437435
9	TGFB3	NM_003239.4(TGFB3):c.899G>A (p.Arg300Gln)	SNV	Pathogenic	143945	rs587777617	GRCh37: 14:76429686-76429686 GRCh38: 14:75963343-75963343
10	TGFB3	NM_003239.4(TGFB3):c.883_884del (p.Gly295fs)	Deletion	Pathogenic	410268	rs1060502826	GRCh37: 14:76429701-76429702 GRCh38: 14:75963358-75963359
11	TGFB3	NM_003239.4(TGFB3):c.1034C>G (p.Ser345Ter)	SNV	Pathogenic	410269	rs1060502827	GRCh37: 14:76427312-76427312 GRCh38: 14:75960969-75960969
12	TGFB3	NM_003239.4(TGFB3):c.989G>A (p.Trp330Ter)	SNV	Pathogenic	477652	rs1555360222	GRCh37: 14:76427357-76427357 GRCh38: 14:75961014-75961014
13	TGFB3	NM_003239.4(TGFB3):c.973C>T (p.Arg325Ter)	SNV	Pathogenic	477651	rs1555360229	GRCh37: 14:76427373-76427373 GRCh38: 14:75961030-75961030
14	TGFB2	NM_003238.5(TGFB2):c.896G>A (p.Arg299Gln)	SNV	Pathogenic	381708	rs1057521150	GRCh37: 1:218609453-218609453 GRCh38: 1:218436111-218436111
15	TGFB2	NM_001135599.4:c.595_1245del	Deletion	Pathogenic	620591		GRCh37: GRCh38:
16	TGFB3	NM_003239.5(TGFB3):c.109A>T (p.Lys37Ter)	SNV	Pathogenic	862476		GRCh37: 14:76447128-76447128 GRCh38: 14:75980785-75980785
17	TGFB3	NC_000014.9:g.(?_75958692)_(75980923_?)del	Deletion	Pathogenic	832288		GRCh37: 14:76425035-76447266 GRCh38:
18	TGFB3	NM_003239.4(TGFB3):c.442C>T (p.Arg148Ter)	SNV	Pathogenic	390113	rs1057523647	GRCh37: 14:76437972-76437972 GRCh38: 14:75971629-75971629
19	TGFB3	NM_003239.4(TGFB3):c.898C>T (p.Arg300Trp)	SNV	Pathogenic	203490	rs796051885	GRCh37: 14:76429687-76429687 GRCh38: 14:75963344-75963344
20	TGFB2	NM_003238.5(TGFB2):c.904C>T (p.Arg302Cys)	SNV	Pathogenic/Likely pathogenic	224872	rs869312903	GRCh37: 1:218609461-218609461 GRCh38: 1:218436119-218436119
21	TGFB3	NM_003239.4(TGFB3):c.353-1G>C	SNV	Likely pathogenic	477636	rs1555360883	GRCh37: 14:76438062-76438062 GRCh38: 14:75971719-75971719
22	TGFB3	NM_003239.4(TGFB3):c.517-1G>C	SNV	Likely pathogenic	569027	rs1566682530	GRCh37: 14:76437599-76437599 GRCh38: 14:75971256-75971256
23	TGFB2	NM_003238.5(TGFB2):c.958C>T (p.Arg320Cys)	SNV	Likely pathogenic	495213	rs1553303352	GRCh37: 1:218610710-218610710 GRCh38: 1:218437368-218437368
24	TGFB2	NM_003238.5(TGFB2):c.547C>T (p.Arg183Cys)	SNV	Likely pathogenic	547806	rs1436552875	GRCh37: 1:218607460-218607460 GRCh38: 1:218434118-218434118
25	TGFB2	NM_003238.5(TGFB2):c.458G>A (p.Arg153His)	SNV	Likely pathogenic	374302	rs1057518684	GRCh37: 1:218578622-218578622 GRCh38: 1:218405280-218405280
26	TGFB3	NM_003239.4(TGFB3):c.916del (p.Tyr306fs)	Deletion	Likely pathogenic	543951	rs1555360362	GRCh37: 14:76429669-76429669 GRCh38: 14:75963326-75963326
27	TGFB3	NM_003239.5(TGFB3):c.517-2A>G	SNV	Likely pathogenic	862608		GRCh37: 14:76437600-76437600 GRCh38: 14:75971257-75971257
28	TGFB3	NC_000014.9:g.(?_75958692)_(75971728_?)del	Deletion	Likely pathogenic	663430		GRCh37: 14:76425035-76438071 GRCh38: 14:75958692-75971728
29	TGFB3	NC_000014.9:g.(?_75958692)_(75965705_?)del	Deletion	Likely pathogenic	665632		GRCh37: 14:76425035-76432048 GRCh38: 14:75958692-75965705
30	TGFB3	NM_003239.4(TGFB3):c.927-1G>C	SNV	Likely pathogenic	487471	rs767548724	GRCh37: 14:76427420-76427420 GRCh38: 14:75961077-75961077
31	TGFB3	NM_003239.5(TGFB3):c.1219A>T (p.Lys407Ter)	SNV	Likely pathogenic	857481		GRCh37: 14:76425550-76425550 GRCh38: 14:75959207-75959207
32	TGFB3	NM_003239.5(TGFB3):c.926+1G>A	SNV	Likely pathogenic	858860		GRCh37: 14:76429658-76429658 GRCh38: 14:75963315-75963315
33	TGFB2	NM_003238.5(TGFB2):c.356C>T (p.Pro119Leu)	SNV	Conflicting interpretations of pathogenicity	213840	rs149533093	GRCh37: 1:218578520-218578520 GRCh38: 1:218405178-218405178
34	TGFB2	NM_001135599.3(TGFB2):c.*589C>A	SNV	Uncertain significance	295500	rs886045981	GRCh37: 1:218615293-218615293 GRCh38: 1:218441951-218441951
35	TGFB2	NM_001135599.3(TGFB2):c.*2980G>C	SNV	Uncertain significance	295537	rs886045993	GRCh37: 1:218617684-218617684 GRCh38: 1:218444342-218444342
36	TGFB2	NM_001135599.3(TGFB2):c.-679G>A	SNV	Uncertain significance	295467	rs886045964	GRCh37: 1:218519365-218519365 GRCh38: 1:218346023-218346023
37	TGFB2	NM_001135599.3(TGFB2):c.-699A>C	SNV	Uncertain significance	295464	rs886045961	GRCh37: 1:218519345-218519345 GRCh38: 1:218346003-218346003
38	TGFB2-OT1 , TGFB2	NM_001135599.3(TGFB2):c.*1615T>C	SNV	Uncertain significance	295520	rs886045987	GRCh37: 1:218616319-218616319 GRCh38: 1:218442977-218442977
39	TGFB3	NM_003239.4(TGFB3):c.965T>C (p.Ile322Thr)	SNV	Uncertain significance	410276	rs762643638	GRCh37: 14:76427381-76427381 GRCh38: 14:75961038-75961038
40	TGFB3	NM_003239.4(TGFB3):c.488G>A (p.Arg163Gln)	SNV	Uncertain significance	410273	rs920721092	GRCh37: 14:76437926-76437926 GRCh38: 14:75971583-75971583
41	TGFB2	NM_003238.5(TGFB2):c.1053G>A (p.Pro351=)	SNV	Uncertain significance	374978	rs142741166	GRCh37: 1:218610805-218610805 GRCh38: 1:218437463-218437463
42	TGFB3	NM_003239.4(TGFB3):c.557T>G (p.Ile186Ser)	SNV	Uncertain significance	410272	rs763289805	GRCh37: 14:76437558-76437558 GRCh38: 14:75971215-75971215
43	TGFB3	NM_003239.4(TGFB3):c.580C>T (p.Arg194Trp)	SNV	Uncertain significance	410271	rs368004396	GRCh37: 14:76437535-76437535 GRCh38: 14:75971192-75971192
44	TGFB3	NM_003239.4(TGFB3):c.797G>A (p.Arg266His)	SNV	Uncertain significance	392606	rs142069844	GRCh37: 14:76429788-76429788 GRCh38: 14:75963445-75963445
45	TGFB3	NM_003239.4(TGFB3):c.389A>G (p.Lys130Arg)	SNV	Uncertain significance	477637	rs780051351	GRCh37: 14:76438025-76438025 GRCh38: 14:75971682-75971682
46	TGFB3	NM_003239.4(TGFB3):c.872C>T (p.Pro291Leu)	SNV	Uncertain significance	410274	rs145121701	GRCh37: 14:76429713-76429713 GRCh38: 14:75963370-75963370
47	TGFB3	NM_003239.4(TGFB3):c.927-6T>A	SNV	Uncertain significance	477647	rs1555360247	GRCh37: 14:76427425-76427425 GRCh38: 14:75961082-75961082
48	TGFB3	NM_003239.4(TGFB3):c.797G>T (p.Arg266Leu)	SNV	Uncertain significance	477643	rs142069844	GRCh37: 14:76429788-76429788 GRCh38: 14:75963445-75963445
49	TGFB3	NM_003239.4(TGFB3):c.2T>A (p.Met1Lys)	SNV	Uncertain significance	477635	rs1555361455	GRCh37: 14:76447235-76447235 GRCh38: 14:75980892-75980892
50	TGFB3	NM_003239.4(TGFB3):c.806A>G (p.Lys269Arg)	SNV	Uncertain significance	477644	rs771638085	GRCh37: 14:76429779-76429779 GRCh38: 14:75963436-75963436

UniProtKB/Swiss-Prot genetic disease variations for Loeys-Dietz Syndrome 4:

⁷²

#	Symbol	AA change	Variation ID	SNP ID
1	TGFB2	p.Arg299Trp	VAR_068932	rs863223792
2	TGFB2	p.Arg302Cys	VAR_068933	rs869312903
3	TGFB2	p.Pro338His	VAR_068934	rs387907278

Sources

Expression for Loeys-Dietz Syndrome 4

Search GEO for disease gene expression data for Loeys-Dietz Syndrome 4.

Sources

Pathways for Loeys-Dietz Syndrome 4

Pathways related to Loeys-Dietz Syndrome 4 according to GeneCards Suite gene sharing:

(show all 48)

#	Super pathways	Score	Top Affiliating Genes
1	Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. ⁶⁵ Show member pathways Complex I biogenesis ⁶⁵ Diabetic cardiomyopathy ³⁶ Electron Transport Chain ¹ Formation of ATP by chemiosmotic coupling ⁶⁵ Non-alcoholic fatty liver disease ³⁶ Oxidative phosphorylation ³⁶ Oxidative phosphorylation ¹ Respiratory electron transport ⁶⁵ The citric acid (TCA) cycle and respiratory electron transport ⁶⁵ Thermogenesis ³⁶	13.34	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
2	PAK Pathway ⁶³ Show member pathways Antioxidant Action of Vitamin-C ⁶³ Epithelial Adherens Junctions ⁶³	13.23	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SLC2A10
3	Toll-like Receptor Signaling Pathway ³⁶ ¹ Show member pathways Chagas disease ³⁶ Hepatitis B ³⁶ Hepatitis C ³⁶ Lipid and atherosclerosis ³⁶ Regulation of toll-like receptor signaling pathway ¹	13.15	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
4	Pathways in cancer ³⁶	12.84	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
5	Endometrial cancer ³⁶ Show member pathways Binding of TCF/LEF-CTNNB1 to target gene promoters ⁶⁵ Chronic myeloid leukemia ³⁶ Colorectal cancer ³⁶ Pancreatic cancer ³⁶ Prostate cancer ³⁶ Signal transduction PTEN pathway ²³ Thyroid cancer ³⁶	12.8	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
6	Gastric cancer ³⁶ Show member pathways Breast cancer ³⁶ Hepatocellular carcinoma ³⁶	12.77	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
7	MAPK signaling pathway ³⁶ ¹	12.67	TGFBR2 TGFBR1 TGFB3 TGFB2
8	Th17 cell differentiation ³⁶ Show member pathways IL-22 Pathway ⁶³ Immune response IL-22 signaling pathway ²³ Inflammatory bowel disease ³⁶ Th1 and Th2 cell differentiation ³⁶	12.6	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
9	Human Embryonic Stem Cell Pluripotency ⁶³ Show member pathways Factors Promoting Cardiogenesis in Vertebrates ⁶³	12.49	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
10	Endocytosis ³⁶	12.38	TGFBR2 TGFBR1 SMAD3 SMAD2
11	Human T-cell leukemia virus 1 infection ³⁶	12.37	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
12	Cell cycle ¹ ³⁶	12.33	TGFB3 TGFB2 SMAD3 SMAD2
13	Transcriptional activity of SMAD2/SMAD3-SMAD4 heterotrimer ⁶⁵ Show member pathways Downregulation of SMAD2/3-SMAD4 transcriptional activity ⁶⁵ Interactions of Tat with host cellular proteins ⁶⁵ Signaling by TGF-beta Receptor Complex ⁶⁵ SMAD2/SMAD3-SMAD4 heterotrimer regulates transcription ⁶⁵ TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition) ⁶⁵	12.27	TGFBR2 TGFBR1 SMAD3 SMAD2
14	Wnt / Hedgehog / Notch ⁴	12.26	TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
15	Colorectal Cancer Metastasis ⁶³	12.2	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
16	Hippo signaling pathway ³⁶	12.15	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
17	Cellular senescence (KEGG) ³⁶	12.13	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
18	FoxO signaling pathway ³⁶ Show member pathways PLK2 and PLK4 events ¹ Polo-like kinase signaling events in the cell cycle ¹	12.11	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3
19	TGF-beta Signaling Pathway (WikiPathways) ¹	12.08	TGFBR2 TGFBR1 SMAD3 SMAD2
20	Integrated Breast Cancer Pathway ¹	12.06	TGFBR2 TGFBR1 SMAD2
21	NRF2 pathway ¹	12.04	TGFBR2 TGFB2 SLC2A10
22	Apelin signaling pathway ³⁶	12.01	TGFBR1 SMAD3 SMAD2
23	Cell cycle Regulation of G1/S transition (part 1) ²³ Show member pathways Cell cycle Role of SCF complex in cell cycle regulation ²³	11.99	TGFBR2 TGFBR1 TGFB2 SMAD3 SMAD2
24	Cytokine production by Th17 cells in CF (Mouse model) ²³ Show member pathways Cytokine production by Th17 cells in CF ²³	11.9	TGFBR2 TGFBR1 SMAD3 SMAD2
25	AGE-RAGE signaling pathway in diabetic complications ³⁶	11.85	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
26	Angiogenesis (CST) ⁴	11.81	TGFBR1 TGFB3 TGFB2
27	SMAD2/3 MH2 Domain Mutants in Cancer ⁶⁵ Show member pathways BMP Signalling Pathway ¹ Canonical and Non-Canonical TGF-B signaling ¹ Loss of Function of SMAD2/3 in Cancer ⁶⁵ Loss of Function of SMAD4 in Cancer ⁶⁵ Loss of Function of TGFBR1 in Cancer ⁶⁵ Loss of Function of TGFBR2 in Cancer ⁶⁵ SMAD2/3 Phosphorylation Motif Mutants in Cancer ⁶⁵ SMAD4 MH2 Domain Mutants in Cancer ⁶⁵ TGFBR1 KD Mutants in Cancer ⁶⁵ TGFBR1 LBD Mutants in Cancer ⁶⁵ TGFBR2 Kinase Domain Mutants in Cancer ⁶⁵ TGFBR2 MSI Frameshift Mutants in Cancer ⁶⁵	11.8	TGFBR2 TGFBR1 SMAD3 SMAD2
28	TGF-beta Signaling Pathways ⁶⁴	11.78	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
29	Development_TGF-beta receptor signaling ²³	11.77	TGFBR2 TGFBR1 SMAD3 SMAD2
30	TGF-beta receptor signaling activates SMADs ⁶⁵ Show member pathways Downregulation of TGF-beta receptor signaling ⁶⁵ Signaling by TGF-beta Receptor Complex in Cancer ⁶⁵	11.75	TGFBR2 TGFBR1 SMAD3 SMAD2
31	Transcription_P53 signaling pathway ²³	11.73	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
32	Elastic fibre formation ⁶⁵ Show member pathways Molecules associated with elastic fibres ⁶⁵	11.71	TGFB3 TGFB2 FBN1
33	Adherens junction ³⁶	11.7	TGFBR2 TGFBR1 SMAD3
34	Th17 Differentiation Pathway ⁶⁴ Show member pathways IL-21 Signaling Pathways and their Primary Biological Effects in Different Immune Cell Types ⁶⁴	11.69	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
35	TGF-beta Receptor Signaling (WikiPathways) ¹	11.66	TGFBR2 TGFBR1 SMAD3 SMAD2
36	IL-2 Gene Expression in Activated and Quiescent T-Cells ⁶³ Show member pathways TOB in T-Cell Signaling ⁶³	11.57	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
37	TGF-beta receptor signaling (Pathway Interaction Database) ¹	11.54	TGFBR2 TGFBR1 TGFB3 SMAD3 SMAD2
38	Cell adhesion_Plasmin signaling ²³	11.52	TGFBR2 TGFBR1 TGFB2
39	TGF-beta signaling pathway (KEGG) ³⁶	11.47	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
40	ALK1 signaling events ¹ Show member pathways ALK1 pathway ¹	11.25	TGFBR2 TGFBR1 TGFB3
41	Glypican 1 network ¹	11.25	TGFBR2 TGFBR1 TGFB3 SMAD2
42	NTHi-Induced Signaling ⁶³	11.14	TGFBR2 TGFBR1 SMAD3
43	IL-4 Signaling Pathways and their Primary Biological Effects in Different Immune Cell Types ⁶⁴	11.03	TGFBR2 TGFBR1 TGFB3 TGFB2
44	Regulation of cytoplasmic and nuclear SMAD2/3 signaling ¹	10.97	SMAD3 SMAD2
45	TGF-B Signaling in Thyroid Cells for Epithelial-Mesenchymal Transition ¹	10.95	SMAD3 SMAD2
46	Hypothesized Pathways in Pathogenesis of Cardiovascular Disease ¹	10.95	TGFBR2 TGFBR1 SMAD3 SMAD2 FBN1
47	IL-9 Signaling Pathways and their Primary Biological Effects in Different Immune Cell Types ⁶⁴	10.76	TGFB3 TGFB2
48	Extracellular vesicle-mediated signaling in recipient cells ¹	10.58	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2

Sources

GO Terms for Loeys-Dietz Syndrome 4

Cellular components related to Loeys-Dietz Syndrome 4 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	heteromeric SMAD protein complex	GO:0071144	8.96	SMAD3 SMAD2
2	SMAD protein complex	GO:0071141	8.62	SMAD3 SMAD2

Biological processes related to Loeys-Dietz Syndrome 4 according to GeneCards Suite gene sharing:

(show top 50) (show all 52)

#	Name	GO ID	Score	Top Affiliating Genes
1	negative regulation of cell proliferation	GO:0008285	10.04	TGFBR2 TGFB3 TGFB2 SMAD3 SMAD2
2	response to hypoxia	GO:0001666	9.93	TGFBR2 TGFB3 TGFB2 SMAD3
3	heart development	GO:0007507	9.93	TGFBR2 TGFBR1 TGFB2 SMAD2 FBN1
4	in utero embryonic development	GO:0001701	9.91	TGFBR2 TGFBR1 TGFB3 SMAD3 SMAD2
5	skeletal system development	GO:0001501	9.89	TGFBR1 TGFB2 SMAD3 FBN1
6	anatomical structure morphogenesis	GO:0009653	9.88	SMAD3 SMAD2 FBN1
7	kidney development	GO:0001822	9.88	TGFBR1 TGFB2 FBN1
8	cell cycle arrest	GO:0007050	9.88	TGFBR1 TGFB2 SMAD3
9	response to glucose	GO:0009749	9.85	TGFBR2 SMAD2 NDUFA9
10	BMP signaling pathway	GO:0030509	9.83	TGFB3 TGFB2 SMAD3 SMAD2
11	cellular response to transforming growth factor beta stimulus	GO:0071560	9.82	TGFBR1 SMAD3 FBN1
12	positive regulation of stress fiber assembly	GO:0051496	9.81	TGFBR1 TGFB3 SMAD3
13	positive regulation of pathway-restricted SMAD protein phosphorylation	GO:0010862	9.8	TGFBR1 TGFB3 TGFB2
14	SMAD protein signal transduction	GO:0060395	9.78	TGFB3 TGFB2 SMAD3 SMAD2
15	gastrulation	GO:0007369	9.76	TGFBR2 SMAD3 SMAD2
16	ventricular septum morphogenesis	GO:0060412	9.75	TGFBR2 TGFBR1 TGFB2
17	embryonic cranial skeleton morphogenesis	GO:0048701	9.73	TGFBR2 TGFBR1 SMAD3 SMAD2
18	transforming growth factor beta receptor signaling pathway	GO:0007179	9.73	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
19	cell-cell junction organization	GO:0045216	9.72	TGFB3 TGFB2 SMAD3
20	developmental growth	GO:0048589	9.71	SMAD3 SMAD2
21	outflow tract septum morphogenesis	GO:0003148	9.71	TGFBR2 TGFB2
22	regulation of transforming growth factor beta receptor signaling pathway	GO:0017015	9.71	SMAD3 SMAD2
23	adrenal gland development	GO:0030325	9.7	SMAD3 SMAD2
24	signal transduction involved in regulation of gene expression	GO:0023019	9.7	SMAD3 SMAD2
25	transmembrane receptor protein serine/threonine kinase signaling pathway	GO:0007178	9.69	TGFBR2 TGFBR1
26	positive regulation of SMAD protein signal transduction	GO:0060391	9.69	TGFBR1 TGFB3
27	cardiac epithelial to mesenchymal transition	GO:0060317	9.69	TGFBR1 TGFB2
28	ventricular trabecula myocardium morphogenesis	GO:0003222	9.68	TGFBR1 TGFB2
29	atrioventricular valve morphogenesis	GO:0003181	9.68	TGFBR2 TGFB2
30	primary miRNA processing	GO:0031053	9.68	SMAD3 SMAD2
31	nodal signaling pathway	GO:0038092	9.68	SMAD3 SMAD2
32	pericardium development	GO:0060039	9.67	SMAD3 SMAD2
33	embryonic foregut morphogenesis	GO:0048617	9.67	SMAD3 SMAD2
34	pathway-restricted SMAD protein phosphorylation	GO:0060389	9.67	TGFBR2 TGFBR1 TGFB2
35	activin receptor signaling pathway	GO:0032924	9.67	TGFBR2 TGFBR1 SMAD3 SMAD2
36	salivary gland morphogenesis	GO:0007435	9.66	TGFB3 TGFB2
37	SMAD protein complex assembly	GO:0007183	9.66	SMAD3 SMAD2
38	membranous septum morphogenesis	GO:0003149	9.65	TGFBR2 TGFB2
39	common-partner SMAD protein phosphorylation	GO:0007182	9.65	TGFBR2 SMAD2
40	negative regulation of macrophage cytokine production	GO:0010936	9.63	TGFB3 TGFB2
41	response to cholesterol	GO:0070723	9.63	TGFBR2 TGFBR1 SMAD2
42	wound healing	GO:0042060	9.63	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
43	regulation of binding	GO:0051098	9.62	SMAD3 SMAD2
44	secondary palate development	GO:0062009	9.62	TGFBR2 TGFB3 TGFB2 SMAD2
45	regulation of transforming growth factor beta2 production	GO:0032909	9.61	TGFB2 SMAD3
46	endocardial cushion fusion	GO:0003274	9.61	TGFBR2 TGFB2
47	positive regulation of tight junction disassembly	GO:1905075	9.6	TGFBR1 TGFB3
48	positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation	GO:1905007	9.58	TGFBR2 TGFBR1 TGFB2
49	paraxial mesoderm morphogenesis	GO:0048340	9.57	SMAD3 SMAD2
50	uterine wall breakdown	GO:0042704	9.56	TGFB3 TGFB2

Molecular functions related to Loeys-Dietz Syndrome 4 according to GeneCards Suite gene sharing:

(show all 12)

#	Name	GO ID	Score	Top Affiliating Genes
1	transforming growth factor beta binding	GO:0050431	9.58	TGFBR2 TGFBR1 TGFB3
2	SMAD binding	GO:0046332	9.56	TGFBR2 TGFBR1 SMAD3 SMAD2
3	I-SMAD binding	GO:0070411	9.54	TGFBR1 SMAD3 SMAD2
4	R-SMAD binding	GO:0070412	9.51	SMAD3 SMAD2
5	type I transforming growth factor beta receptor binding	GO:0034713	9.5	TGFBR2 TGFB3 SMAD2
6	activin binding	GO:0048185	9.49	TGFBR2 TGFBR1
7	co-SMAD binding	GO:0070410	9.48	SMAD3 SMAD2
8	transmembrane receptor protein serine/threonine kinase activity	GO:0004675	9.46	TGFBR2 TGFBR1
9	transforming growth factor beta-activated receptor activity	GO:0005024	9.43	TGFBR2 TGFBR1
10	type II transforming growth factor beta receptor binding	GO:0005114	9.33	TGFBR1 TGFB3 TGFB2
11	type III transforming growth factor beta receptor binding	GO:0034714	9.13	TGFBR2 TGFB3 TGFB2
12	transforming growth factor beta receptor binding	GO:0005160	8.92	TGFB3 TGFB2 SMAD3 SMAD2

Sources

Sources for Loeys-Dietz Syndrome 4

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

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¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

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²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 20-May-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Loeys-Dietz Syndrome 4 (LDS4)

Aliases & Classifications for Loeys-Dietz Syndrome 4

MalaCards integrated aliases for Loeys-Dietz Syndrome 4:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Loeys-Dietz Syndrome 4

Related Diseases for Loeys-Dietz Syndrome 4

Diseases in the Loeys-Dietz Syndrome family:

Diseases related to Loeys-Dietz Syndrome 4 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Loeys-Dietz Syndrome 4:

Symptoms & Phenotypes for Loeys-Dietz Syndrome 4

Human phenotypes related to Loeys-Dietz Syndrome 4:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

UMLS symptoms related to Loeys-Dietz Syndrome 4:

GenomeRNAi Phenotypes related to Loeys-Dietz Syndrome 4 according to GeneCards Suite gene sharing:

MGI Mouse Phenotypes related to Loeys-Dietz Syndrome 4:

Drugs & Therapeutics for Loeys-Dietz Syndrome 4

Genetic Tests for Loeys-Dietz Syndrome 4

Genetic tests related to Loeys-Dietz Syndrome 4:

Anatomical Context for Loeys-Dietz Syndrome 4

MalaCards organs/tissues related to Loeys-Dietz Syndrome 4:

Publications for Loeys-Dietz Syndrome 4

Articles related to Loeys-Dietz Syndrome 4:

Genes for Loeys-Dietz Syndrome 4

Genes related to Loeys-Dietz Syndrome 4 (2 elite genes):

Variations for Loeys-Dietz Syndrome 4

ClinVar genetic disease variations for Loeys-Dietz Syndrome 4:

UniProtKB/Swiss-Prot genetic disease variations for Loeys-Dietz Syndrome 4:

Expression for Loeys-Dietz Syndrome 4

Pathways for Loeys-Dietz Syndrome 4

Pathways related to Loeys-Dietz Syndrome 4 according to GeneCards Suite gene sharing:

GO Terms for Loeys-Dietz Syndrome 4

Cellular components related to Loeys-Dietz Syndrome 4 according to GeneCards Suite gene sharing:

Biological processes related to Loeys-Dietz Syndrome 4 according to GeneCards Suite gene sharing:

Molecular functions related to Loeys-Dietz Syndrome 4 according to GeneCards Suite gene sharing:

Sources for Loeys-Dietz Syndrome 4